|
OMIM |
Link |
Information gain |
01 |
|
megalencephaly
|
[NCBI]
|
0.00101711
|
|
|
SCAR6
|
[NCBI]
|
0.00101711
|
|
|
DWS
|
[NCBI]
|
0.000547082
|
|
|
PWS
|
[NCBI]
|
0.000406679
|
|
|
SRS
|
[NCBI]
|
0.000292453
|
|
|
histidinemia
|
[NCBI]
|
0.000236336
|
|
|
IS1
|
[NCBI]
|
0.00022566
|
|
|
CF
|
[NCBI]
|
0.000159064
|
|
|
asthma, short stature, and elevated iga
|
[NCBI]
|
0.000135914
|
|
|
stratton-parker syndrome
|
[NCBI]
|
0.000135914
|
|
|
young-simpson syndrome
|
[NCBI]
|
0.000108163
|
|
|
XMRE
|
[NCBI]
|
0.000108163
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
9.77023e-05
|
|
|
paroxysmal tonic upgaze, benign childhood, with ataxia
|
[NCBI]
|
9.09171e-05
|
|
|
GH1
|
[NCBI]
|
7.46342e-05
|
|
|
VLDLRCH
|
[NCBI]
|
7.3196e-05
|
|
|
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
|
[NCBI]
|
6.40333e-05
|
|
|
CFTD
|
[NCBI]
|
6.26236e-05
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
6.13095e-05
|
|
|
hartnup disorder
|
[NCBI]
|
6.13095e-05
|
|
|
OPTB3
|
[NCBI]
|
6.00791e-05
|
|
|
NPHS1
|
[NCBI]
|
6.00791e-05
|
|
|
osteogenesis imperfecta, type iv
|
[NCBI]
|
5.78314e-05
|
|
|
bethlem myopathy
|
[NCBI]
|
5.78314e-05
|
|
|
DA2A
|
[NCBI]
|
5.6799e-05
|
|
|
osteogenesis imperfecta, type iii
|
[NCBI]
|
5.58194e-05
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
5.39992e-05
|
|
|
charge syndrome
|
[NCBI]
|
5.23379e-05
|
|
|
CFNS
|
[NCBI]
|
5.23379e-05
|
|
|
STL1
|
[NCBI]
|
4.87295e-05
|
|
|
SLE
|
[NCBI]
|
4.80179e-05
|
|
|
VDR
|
[NCBI]
|
4.6024e-05
|
|
|
CDPX2
|
[NCBI]
|
4.57052e-05
|
|
|
RTT
|
[NCBI]
|
4.53621e-05
|
|
|
vitamin d-dependent rickets, type ii
|
[NCBI]
|
4.51553e-05
|
|
|
lactase persistence
|
[NCBI]
|
4.46212e-05
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
4.35975e-05
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
4.31063e-05
|
|
|
RSTS
|
[NCBI]
|
4.2628e-05
|
|
|
CSA
|
[NCBI]
|
3.99954e-05
|
|
|
LEP
|
[NCBI]
|
3.94607e-05
|
|
|
hurler syndrome
|
[NCBI]
|
3.73438e-05
|
|
|
ATP6AP2
|
[NCBI]
|
3.67181e-05
|
|
|
GTS
|
[NCBI]
|
3.67095e-05
|
|
|
HOS
|
[NCBI]
|
3.59895e-05
|
|
|
AS
|
[NCBI]
|
3.5665e-05
|
|
|
phenylketonuria
|
[NCBI]
|
3.52621e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
3.41363e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
3.38458e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
3.32792e-05
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
3.16839e-05
|
|
|
PTH
|
[NCBI]
|
3.08955e-05
|
|
|
MAS
|
[NCBI]
|
2.88861e-05
|
|
|
WHS
|
[NCBI]
|
2.72544e-05
|
|
|
krabbe disease
|
[NCBI]
|
2.6871e-05
|
|
|
GAMT
|
[NCBI]
|
2.367e-05
|
|
|
EIG
|
[NCBI]
|
2.08298e-05
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
1.88085e-05
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
1.78522e-05
|
|
|
WBS
|
[NCBI]
|
1.75467e-05
|
|
|
COL1A1
|
[NCBI]
|
1.7361e-05
|
|
|
EPO
|
[NCBI]
|
1.66054e-05
|
|
|
DGS
|
[NCBI]
|
1.6483e-05
|
|
|
GFAP
|
[NCBI]
|
1.62624e-05
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
1.44014e-05
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
1.34768e-05
|
|
|
ACE
|
[NCBI]
|
9.46567e-06
|
|
|
ALB
|
[NCBI]
|
8.71756e-06
|
|
|
hla-d histocompatibility type
|
[NCBI]
|
8.41007e-06
|
|
|
COMT
|
[NCBI]
|
7.52051e-06
|
|
|
GNRH1
|
[NCBI]
|
6.42125e-06
|
|
|
TS
|
[NCBI]
|
4.38974e-06
|
|
|
PRL
|
[NCBI]
|
3.43068e-06
|
|
|
FMF
|
[NCBI]
|
3.42657e-06
|
|
|
NPPA
|
[NCBI]
|
2.98414e-06
|
|
|
MBP
|
[NCBI]
|
2.07914e-06
|
|
|
CD
|
[NCBI]
|
1.89384e-06
|
|
|
APOE
|
[NCBI]
|
1.81859e-06
|
|
|
MDD
|
[NCBI]
|
1.41258e-06
|
|
|
CRH
|
[NCBI]
|
1.24637e-06
|
|
|
BDNF
|
[NCBI]
|
1.20949e-06
|
|
|
TNF
|
[NCBI]
|
8.07599e-07
|
|
|
VEGF
|
[NCBI]
|
7.90731e-07
|
|
|
NGFB
|
[NCBI]
|
5.7698e-09
|
|